Rflna-flox Mouse

Rflna, or refilin A, encodes one of the filamin-binding proteins. Refilins, along with filamins and myosins, play critical roles in forming perinuclear actin caps, which are involved in changing nuclear morphology during cell migration and differentiation [1].

A homozygous frameshift mutation in RFLNA (c.241delC, p.(Leu81Cysfs*111)) was identified in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome, suggesting that RFLNA is an additional causative gene for this syndrome, and defects in forming actin bundles and perinuclear actin caps may be a key mechanism in its development [1].

In lung adenocarcinoma, upregulation of RFLNA promoted cell proliferation, migration, invasion, and attenuated apoptosis, indicating its role in promoting the development and metastasis of the cancer [2]. A prognostic model including RFLNA was developed to predict immunotherapy response and prognosis in kidney renal clear cell carcinoma [5]. Also, regulatory changes in RFLNA significantly interacted with genetic ancestry and exacerbated cancer survival disparities in certain cancer types [3]. Promising cis-regulatory elements influencing horse withers height by regulating RFLNA were identified in ponies [4].

In conclusion, Rflna is important for the formation of perinuclear actin caps and has implications in multiple disease areas. Its mutations can lead to spondylocarpotarsal synostosis syndrome in humans, and it plays roles in cancer development, metastasis, and prognosis, as well as in determining body size in ponies. Studies on Rflna contribute to understanding disease mechanisms and potentially developing new therapeutic strategies.